Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1426868527 1 20633841 missense variant G/A;T snv 3
rs369634041 6 162262647 missense variant C/A;T snv 4.0E-06; 2.0E-05 3
rs1057518882
CYTB ; ND5 ; ND6
MT 14598 missense variant T/C snv 2
rs139548132 1.000 1 119140608 missense variant A/C;G;T snv 3.2E-03; 1.6E-05; 4.0E-06 2
rs757199733
TTN
2 178799505 missense variant G/A snv 8.0E-06 7.0E-06 2
rs1057519629 16 2498332 missense variant C/G;T snv 2.1E-05 1
rs1417802320 1 7962861 missense variant A/T snv 4.0E-06 1
rs41311141 22 32484019 synonymous variant A/G;T snv 3.4E-02 1
rs45467995 1 20649062 missense variant G/A snv 1
rs55739947 15 101010802 missense variant C/A snv 9.3E-03 8.4E-03 1
rs748705829 11 233109 missense variant T/C snv 8.0E-06 1
rs752804472 20 31484309 missense variant G/A;T snv 5.7E-06; 5.7E-06 1
rs756677845 1 20638074 frameshift variant G/- del 1
rs758414077
FTL
19 48966681 synonymous variant G/A snv 8.0E-06 2.8E-05 1
rs781652026 10 100989789 missense variant G/A;T snv 4.0E-06 1
rs1224426272
CIT
0.925 0.040 12 119869138 missense variant C/T snv 6
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 5
rs45539432 0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05 5
rs762472005 0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06 5
rs368134308 0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04 4
rs71653619 1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03 4
rs12817488 1.000 0.040 12 122811747 intron variant G/A snv 0.39 3
rs1290141855 1.000 0.040 16 55698539 missense variant T/C snv 4.0E-06 7.0E-06 3
rs74315356 0.925 0.040 1 20649054 stop gained G/A snv 4.0E-06 1.4E-05 3
rs74315360 0.925 0.040 1 20638104 missense variant C/A snv 3